Dataset statistics
| Number of variables | 23 |
|---|---|
| Number of observations | 65188 |
| Missing cells | 64952 |
| Missing cells (%) | 4.3% |
| Duplicate rows | 0 |
| Duplicate rows (%) | 0.0% |
| Total size in memory | 62.8 MiB |
| Average record size in memory | 1010.2 B |
Variable types
| CAT | 14 |
|---|---|
| NUM | 7 |
| BOOL | 1 |
| UNSUPPORTED | 1 |
Reproduction
| Analysis started | 2020-05-04 13:25:23.037182 |
|---|---|
| Analysis finished | 2020-05-04 13:29:10.818671 |
| Version | pandas-profiling v2.5.0 |
| Command line | pandas_profiling --config_file config.yaml [YOUR_FILE.csv] |
| Download configuration | config.yaml |
REF has a high cardinality: 866 distinct values | High cardinality |
ALT has a high cardinality: 458 distinct values | High cardinality |
CLNHGVS has a high cardinality: 65188 distinct values | High cardinality |
MC has a high cardinality: 90 distinct values | High cardinality |
Allele has a high cardinality: 374 distinct values | High cardinality |
EXON has a high cardinality: 3264 distinct values | High cardinality |
cDNA_position has a high cardinality: 13970 distinct values | High cardinality |
CDS_position has a high cardinality: 13663 distinct values | High cardinality |
Protein_position has a high cardinality: 7339 distinct values | High cardinality |
Amino_acids has a high cardinality: 1262 distinct values | High cardinality |
Codons has a high cardinality: 2220 distinct values | High cardinality |
CADD_RAW is highly correlated with CADD_PHRED | High Correlation |
CADD_PHRED is highly correlated with CADD_RAW | High Correlation |
MC has 846 (1.3%) missing values | Missing |
EXON has 8893 (13.6%) missing values | Missing |
cDNA_position has 8884 (13.6%) missing values | Missing |
CDS_position has 9955 (15.3%) missing values | Missing |
Protein_position has 9955 (15.3%) missing values | Missing |
Amino_acids has 10004 (15.3%) missing values | Missing |
Codons has 10004 (15.3%) missing values | Missing |
LoFtool has 4213 (6.5%) missing values | Missing |
CADD_PHRED has 1092 (1.7%) missing values | Missing |
CADD_RAW has 1092 (1.7%) missing values | Missing |
CHROM is an unsupported type, check if it needs cleaning or further analysis | Rejected |
AF_ESP has 35781 (54.9%) zeros | Zeros |
AF_EXAC has 24047 (36.9%) zeros | Zeros |
AF_TGP has 37972 (58.2%) zeros | Zeros |
POS
Real number (ℝ≥0)
| Distinct count | 63115 |
|---|---|
| Unique (%) | 96.8% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Infinite | 0 |
| Infinite (%) | 0.0% |
| Mean | 77575938.96 |
|---|---|
| Minimum | 961 |
| Maximum | 247607973 |
| Zeros | 0 |
| Zeros (%) | 0.0% |
| Memory size | 509.4 KiB |
Quantile statistics
| Minimum | 961 |
|---|---|
| 5-th percentile | 4876674.45 |
| Q1 | 32541793 |
| median | 57970213 |
| Q3 | 112745411.2 |
| 95-th percentile | 187122313.8 |
| Maximum | 247607973 |
| Range | 247607012 |
| Interquartile range (IQR) | 80203618.25 |
Descriptive statistics
| Standard deviation | 59740509.88 |
|---|---|
| Coefficient of variation (CV) | 0.7700907096 |
| Kurtosis | -0.1906181669 |
| Mean | 77575938.96 |
| Median Absolute Deviation (MAD) | 50014175.48 |
| Skewness | 0.8029306643 |
| Sum | 5.057020309e+12 |
| Variance | 3.568928521e+15 |
Histogram with fixed size bins (bins=10)
Histogram with variable size bins (bins=[9.61000000e+02 1.57170000e+04 2.18465000e+05 2.18490500e+05 2.23595500e+05 ... 2.47582272e+08 2.47582350e+08 2.47587376e+08 2.47588864e+08 2.47607973e+08], "bayesian blocks" binning strategy used)
| Value | Count | Frequency (%) | |
| 89876827 | 11 | < 0.1% | |
| 179578108 | 9 | < 0.1% | |
| 73613031 | 8 | < 0.1% | |
| 92944314 | 7 | < 0.1% | |
| 103629803 | 7 | < 0.1% | |
| 17697093 | 6 | < 0.1% | |
| 51175655 | 6 | < 0.1% | |
| 25031776 | 6 | < 0.1% | |
| 11097199 | 5 | < 0.1% | |
| 98270646 | 5 | < 0.1% | |
| Other values (63105) | 65118 | 99.9% |
| Value | Count | Frequency (%) | |
| 961 | 1 | < 0.1% | |
| 1291 | 1 | < 0.1% | |
| 1393 | 1 | < 0.1% | |
| 1462 | 1 | < 0.1% | |
| 3243 | 1 | < 0.1% |
| Value | Count | Frequency (%) | |
| 247607973 | 1 | < 0.1% | |
| 247607371 | 1 | < 0.1% | |
| 247592912 | 1 | < 0.1% | |
| 247588869 | 1 | < 0.1% | |
| 247588858 | 1 | < 0.1% |
| Distinct count | 866 |
|---|---|
| Unique (%) | 1.3% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Memory size | 509.4 KiB |
| C | |
|---|---|
| G | |
| A | |
| T | |
| CT | 126 |
| Other values (861) | 2637 |
| Value | Count | Frequency (%) | |
| C | 21798 | 33.4% | |
| G | 21361 | 32.8% | |
| A | 9845 | 15.1% | |
| T | 9421 | 14.5% | |
| CT | 126 | 0.2% | |
| GC | 113 | 0.2% | |
| TG | 105 | 0.2% | |
| AG | 104 | 0.2% | |
| AC | 103 | 0.2% | |
| GA | 91 | 0.1% | |
| Other values (856) | 2121 | 3.3% |
Length
| Max length | 127 |
|---|---|
| Mean length | 1.174863472 |
| Min length | 1 |
| Value | Count | Frequency (%) | |
| Uppercase_Letter | 4 | 100.0% |
| Value | Count | Frequency (%) | |
| Latin | 4 | 100.0% |
| Value | Count | Frequency (%) | |
| ASCII | 4 | 100.0% |
| Distinct count | 458 |
|---|---|
| Unique (%) | 0.7% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Memory size | 509.4 KiB |
| T | |
|---|---|
| A | |
| G | |
| C | |
| TA | 118 |
| Other values (453) | 1245 |
| Value | Count | Frequency (%) | |
| T | 20409 | 31.3% | |
| A | 20205 | 31.0% | |
| G | 11782 | 18.1% | |
| C | 11429 | 17.5% | |
| TA | 118 | 0.2% | |
| CT | 93 | 0.1% | |
| CA | 77 | 0.1% | |
| AT | 75 | 0.1% | |
| GA | 67 | 0.1% | |
| GT | 64 | 0.1% | |
| Other values (448) | 869 | 1.3% |
Length
| Max length | 100 |
|---|---|
| Mean length | 1.072359944 |
| Min length | 1 |
| Value | Count | Frequency (%) | |
| Uppercase_Letter | 4 | 100.0% |
| Value | Count | Frequency (%) | |
| Latin | 4 | 100.0% |
| Value | Count | Frequency (%) | |
| ASCII | 4 | 100.0% |
| Distinct count | 2842 |
|---|---|
| Unique (%) | 4.4% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Infinite | 0 |
| Infinite (%) | 0.0% |
| Mean | 0.01451052188 |
|---|---|
| Minimum | 0 |
| Maximum | 0.499 |
| Zeros | 35781 |
| Zeros (%) | 54.9% |
| Memory size | 509.4 KiB |
Quantile statistics
| Minimum | 0 |
|---|---|
| 5-th percentile | 0 |
| Q1 | 0 |
| median | 0 |
| Q3 | 0.0012 |
| 95-th percentile | 0.075765 |
| Maximum | 0.499 |
| Range | 0.499 |
| Interquartile range (IQR) | 0.0012 |
Descriptive statistics
| Standard deviation | 0.05779541015 |
|---|---|
| Coefficient of variation (CV) | 3.983000105 |
| Kurtosis | 32.06061665 |
| Mean | 0.01451052188 |
| Median Absolute Deviation (MAD) | 0.02422527929 |
| Skewness | 5.465588287 |
| Sum | 945.9119 |
| Variance | 0.003340309435 |
Histogram with fixed size bins (bins=10)
Histogram with variable size bins (bins=[0.0000e+00 5.0000e-05 1.5000e-04 2.5000e-04 3.5000e-04 ... 1.0415e-01 1.7640e-01 2.0745e-01 3.2555e-01 4.9900e-01], "bayesian blocks" binning strategy used)
| Value | Count | Frequency (%) | |
| 0 | 35781 | 54.9% | |
| 0.0001 | 3924 | 6.0% | |
| 0.0002 | 3199 | 4.9% | |
| 0.0003 | 1110 | 1.7% | |
| 0.0005 | 994 | 1.5% | |
| 0.0004 | 819 | 1.3% | |
| 0.0009 | 637 | 1.0% | |
| 0.0006 | 523 | 0.8% | |
| 0.0007 | 457 | 0.7% | |
| 0.0008 | 440 | 0.7% | |
| Other values (2832) | 17304 | 26.5% |
| Value | Count | Frequency (%) | |
| 0 | 35781 | 54.9% | |
| 0.0001 | 3924 | 6.0% | |
| 0.0002 | 3199 | 4.9% | |
| 0.0003 | 1110 | 1.7% | |
| 0.0004 | 819 | 1.3% |
| Value | Count | Frequency (%) | |
| 0.499 | 1 | < 0.1% | |
| 0.4989 | 1 | < 0.1% | |
| 0.4986 | 1 | < 0.1% | |
| 0.4985 | 1 | < 0.1% | |
| 0.4979 | 1 | < 0.1% |
| Distinct count | 6667 |
|---|---|
| Unique (%) | 10.2% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Infinite | 0 |
| Infinite (%) | 0.0% |
| Mean | 0.0144921754 |
|---|---|
| Minimum | 0 |
| Maximum | 0.49989 |
| Zeros | 24047 |
| Zeros (%) | 36.9% |
| Memory size | 509.4 KiB |
Quantile statistics
| Minimum | 0 |
|---|---|
| 5-th percentile | 0 |
| Q1 | 0 |
| median | 4e-05 |
| Q3 | 0.00123 |
| 95-th percentile | 0.0768395 |
| Maximum | 0.49989 |
| Range | 0.49989 |
| Interquartile range (IQR) | 0.00123 |
Descriptive statistics
| Standard deviation | 0.05954209632 |
|---|---|
| Coefficient of variation (CV) | 4.108568568 |
| Kurtosis | 31.33022126 |
| Mean | 0.0144921754 |
| Median Absolute Deviation (MAD) | 0.02460664223 |
| Skewness | 5.434358612 |
| Sum | 944.71593 |
| Variance | 0.003545261235 |
Histogram with fixed size bins (bins=10)
Histogram with variable size bins (bins=[0.00000e+00 5.00000e-06 1.50000e-05 2.50000e-05 3.50000e-05 ... 1.07935e-01 1.35870e-01 2.13700e-01 4.00425e-01 4.99890e-01], "bayesian blocks" binning strategy used)
| Value | Count | Frequency (%) | |
| 0 | 24047 | 36.9% | |
| 1e-05 | 3263 | 5.0% | |
| 3e-05 | 2321 | 3.6% | |
| 2e-05 | 2037 | 3.1% | |
| 4e-05 | 1013 | 1.6% | |
| 5e-05 | 881 | 1.4% | |
| 7e-05 | 841 | 1.3% | |
| 6e-05 | 665 | 1.0% | |
| 8e-05 | 663 | 1.0% | |
| 0.00012 | 492 | 0.8% | |
| Other values (6657) | 28965 | 44.4% |
| Value | Count | Frequency (%) | |
| 0 | 24047 | 36.9% | |
| 1e-05 | 3263 | 5.0% | |
| 2e-05 | 2037 | 3.1% | |
| 3e-05 | 2321 | 3.6% | |
| 4e-05 | 1013 | 1.6% |
| Value | Count | Frequency (%) | |
| 0.49989 | 1 | < 0.1% | |
| 0.49974 | 1 | < 0.1% | |
| 0.49967 | 1 | < 0.1% | |
| 0.49962 | 1 | < 0.1% | |
| 0.4996 | 1 | < 0.1% |
| Distinct count | 2087 |
|---|---|
| Unique (%) | 3.2% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Infinite | 0 |
| Infinite (%) | 0.0% |
| Mean | 0.01526349635 |
|---|---|
| Minimum | 0 |
| Maximum | 0.4998 |
| Zeros | 37972 |
| Zeros (%) | 58.2% |
| Memory size | 509.4 KiB |
Quantile statistics
| Minimum | 0 |
|---|---|
| 5-th percentile | 0 |
| Q1 | 0 |
| median | 0 |
| Q3 | 0.0016 |
| 95-th percentile | 0.0837 |
| Maximum | 0.4998 |
| Range | 0.4998 |
| Interquartile range (IQR) | 0.0016 |
Descriptive statistics
| Standard deviation | 0.05952740749 |
|---|---|
| Coefficient of variation (CV) | 3.899985045 |
| Kurtosis | 30.43211765 |
| Mean | 0.01526349635 |
| Median Absolute Deviation (MAD) | 0.02538392379 |
| Skewness | 5.328800456 |
| Sum | 994.9968 |
| Variance | 0.003543512242 |
Histogram with fixed size bins (bins=10)
Histogram with variable size bins (bins=[0.000e+00 1.000e-04 2.500e-04 3.500e-04 4.500e-04 ... 7.920e-02 1.125e-01 1.644e-01 2.723e-01 4.998e-01], "bayesian blocks" binning strategy used)
| Value | Count | Frequency (%) | |
| 0 | 37972 | 58.2% | |
| 0.0002 | 3786 | 5.8% | |
| 0.0004 | 2073 | 3.2% | |
| 0.0006 | 1352 | 2.1% | |
| 0.0008 | 1059 | 1.6% | |
| 0.001 | 872 | 1.3% | |
| 0.0012 | 679 | 1.0% | |
| 0.0014 | 609 | 0.9% | |
| 0.0016 | 584 | 0.9% | |
| 0.0018 | 472 | 0.7% | |
| Other values (2077) | 15730 | 24.1% |
| Value | Count | Frequency (%) | |
| 0 | 37972 | 58.2% | |
| 0.0002 | 3786 | 5.8% | |
| 0.0003 | 129 | 0.2% | |
| 0.0004 | 2073 | 3.2% | |
| 0.0005 | 85 | 0.1% |
| Value | Count | Frequency (%) | |
| 0.4998 | 1 | < 0.1% | |
| 0.4994 | 1 | < 0.1% | |
| 0.499 | 1 | < 0.1% | |
| 0.4984 | 1 | < 0.1% | |
| 0.4976 | 1 | < 0.1% |
| Distinct count | 65188 |
|---|---|
| Unique (%) | 100.0% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Memory size | 509.4 KiB |
| NC_000001.10:g.201043755G>A | 1 |
|---|---|
| NC_000007.13:g.6013143C>T | 1 |
| NC_000002.11:g.215645514A>C | 1 |
| NC_000015.9:g.93547852A>G | 1 |
| NC_000001.10:g.228345567C>T | 1 |
| Other values (65183) |
| Value | Count | Frequency (%) | |
| NC_000001.10:g.201043755G>A | 1 | < 0.1% | |
| NC_000007.13:g.6013143C>T | 1 | < 0.1% | |
| NC_000002.11:g.215645514A>C | 1 | < 0.1% | |
| NC_000015.9:g.93547852A>G | 1 | < 0.1% | |
| NC_000001.10:g.228345567C>T | 1 | < 0.1% | |
| NC_000019.9:g.11105560C>A | 1 | < 0.1% | |
| NC_000016.9:g.56388893C>T | 1 | < 0.1% | |
| NC_000013.10:g.32913537G>A | 1 | < 0.1% | |
| NC_000001.10:g.115218260A>T | 1 | < 0.1% | |
| NC_000016.9:g.50733392T>A | 1 | < 0.1% | |
| Other values (65178) | 65178 | > 99.9% |
Length
| Max length | 102 |
|---|---|
| Mean length | 26.42133522 |
| Min length | 20 |
| Value | Count | Frequency (%) | |
| Lowercase_Letter | 11 | 34.4% | |
| Decimal_Number | 10 | 31.2% | |
| Uppercase_Letter | 5 | 15.6% | |
| Other_Punctuation | 2 | 6.2% | |
| Close_Punctuation | 1 | 3.1% | |
| Math_Symbol | 1 | 3.1% | |
| Open_Punctuation | 1 | 3.1% | |
| Connector_Punctuation | 1 | 3.1% |
| Value | Count | Frequency (%) | |
| Latin | 16 | 50.0% | |
| Common | 16 | 50.0% |
| Value | Count | Frequency (%) | |
| ASCII | 32 | 100.0% |
CLNVC
Categorical
| Distinct count | 7 |
|---|---|
| Unique (%) | < 0.1% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Memory size | 509.4 KiB |
| single_nucleotide_variant | |
|---|---|
| Deletion | 2509 |
| Duplication | 1034 |
| Indel | 247 |
| Insertion | 95 |
| Other values (2) | 22 |
| Value | Count | Frequency (%) | |
| single_nucleotide_variant | 61281 | 94.0% | |
| Deletion | 2509 | 3.8% | |
| Duplication | 1034 | 1.6% | |
| Indel | 247 | 0.4% | |
| Insertion | 95 | 0.1% | |
| Inversion | 17 | < 0.1% | |
| Microsatellite | 5 | < 0.1% |
Length
| Max length | 25 |
|---|---|
| Mean length | 24.01951279 |
| Min length | 5 |
| Value | Count | Frequency (%) | |
| Lowercase_Letter | 15 | 78.9% | |
| Uppercase_Letter | 3 | 15.8% | |
| Connector_Punctuation | 1 | 5.3% |
| Value | Count | Frequency (%) | |
| Latin | 18 | 94.7% | |
| Common | 1 | 5.3% |
| Value | Count | Frequency (%) | |
| ASCII | 19 | 100.0% |
| Distinct count | 90 |
|---|---|
| Unique (%) | 0.1% |
| Missing | 846 |
| Missing (%) | 1.3% |
| Memory size | 509.4 KiB |
| SO:0001583|missense_variant | |
|---|---|
| SO:0001819|synonymous_variant | |
| SO:0001627|intron_variant | |
| SO:0001583|missense_variant,SO:0001627|intron_variant | 2803 |
| SO:0001589|frameshift_variant | 1622 |
| Other values (85) |
| Value | Count | Frequency (%) | |
| SO:0001583|missense_variant | 28457 | 43.7% | |
| SO:0001819|synonymous_variant | 16549 | 25.4% | |
| SO:0001627|intron_variant | 7534 | 11.6% | |
| SO:0001583|missense_variant,SO:0001627|intron_variant | 2803 | 4.3% | |
| SO:0001589|frameshift_variant | 1622 | 2.5% | |
| SO:0001587|nonsense | 1573 | 2.4% | |
| SO:0001627|intron_variant,SO:0001819|synonymous_variant | 1148 | 1.8% | |
| SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant | 724 | 1.1% | |
| SO:0001623|5_prime_UTR_variant | 516 | 0.8% | |
| SO:0001575|splice_donor_variant | 504 | 0.8% | |
| Other values (80) | 2912 | 4.5% | |
| (Missing) | 846 | 1.3% |
Length
| Max length | 121 |
|---|---|
| Mean length | 30.09966558 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Lowercase_Letter | 19 | 47.5% | |
| Decimal_Number | 10 | 25.0% | |
| Uppercase_Letter | 7 | 17.5% | |
| Other_Punctuation | 2 | 5.0% | |
| Connector_Punctuation | 1 | 2.5% | |
| Math_Symbol | 1 | 2.5% |
| Value | Count | Frequency (%) | |
| Latin | 26 | 65.0% | |
| Common | 14 | 35.0% |
| Value | Count | Frequency (%) | |
| ASCII | 40 | 100.0% |
CLASS
Boolean
| Distinct count | 2 |
|---|---|
| Unique (%) | < 0.1% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Memory size | 509.4 KiB |
| 0 | |
|---|---|
| 1 |
| Value | Count | Frequency (%) | |
| 0 | 48754 | 74.8% | |
| 1 | 16434 | 25.2% |
| Distinct count | 374 |
|---|---|
| Unique (%) | 0.6% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Memory size | 509.4 KiB |
| T | |
|---|---|
| A | |
| G | |
| C | |
| - | 2510 |
| Other values (369) | 729 |
| Value | Count | Frequency (%) | |
| T | 19991 | 30.7% | |
| A | 19800 | 30.4% | |
| G | 11397 | 17.5% | |
| C | 10761 | 16.5% | |
| - | 2510 | 3.9% | |
| AA | 46 | 0.1% | |
| TT | 38 | 0.1% | |
| AT | 20 | < 0.1% | |
| CA | 19 | < 0.1% | |
| CT | 17 | < 0.1% | |
| Other values (364) | 589 | 0.9% |
Length
| Max length | 99 |
|---|---|
| Mean length | 1.054979444 |
| Min length | 1 |
| Value | Count | Frequency (%) | |
| Uppercase_Letter | 4 | 80.0% | |
| Dash_Punctuation | 1 | 20.0% |
| Value | Count | Frequency (%) | |
| Latin | 4 | 80.0% | |
| Common | 1 | 20.0% |
| Value | Count | Frequency (%) | |
| ASCII | 5 | 100.0% |
IMPACT
Categorical
| Distinct count | 4 |
|---|---|
| Unique (%) | < 0.1% |
| Missing | 0 |
| Missing (%) | 0.0% |
| Memory size | 509.4 KiB |
| MODERATE | |
|---|---|
| LOW | |
| MODIFIER | 5582 |
| HIGH | 4752 |
| Value | Count | Frequency (%) | |
| MODERATE | 33212 | 50.9% | |
| LOW | 21642 | 33.2% | |
| MODIFIER | 5582 | 8.6% | |
| HIGH | 4752 | 7.3% |
Length
| Max length | 8 |
|---|---|
| Mean length | 6.048444499 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Uppercase_Letter | 13 | 100.0% |
| Value | Count | Frequency (%) | |
| Latin | 13 | 100.0% |
| Value | Count | Frequency (%) | |
| ASCII | 13 | 100.0% |
| Distinct count | 3264 |
|---|---|
| Unique (%) | 5.8% |
| Missing | 8893 |
| Missing (%) | 13.6% |
| Memory size | 509.4 KiB |
| 16/16 | 1129 |
|---|---|
| 11/27 | 807 |
| 4/10 | 752 |
| 3/3 | 581 |
| 2/2 | 570 |
| Other values (3259) |
| Value | Count | Frequency (%) | |
| 16/16 | 1129 | 1.7% | |
| 11/27 | 807 | 1.2% | |
| 4/10 | 752 | 1.2% | |
| 3/3 | 581 | 0.9% | |
| 2/2 | 570 | 0.9% | |
| 10/24 | 525 | 0.8% | |
| 326/363 | 368 | 0.6% | |
| 4/13 | 368 | 0.6% | |
| 4/4 | 354 | 0.5% | |
| 4/11 | 342 | 0.5% | |
| Other values (3254) | 50499 | 77.5% | |
| (Missing) | 8893 | 13.6% |
Length
| Max length | 7 |
|---|---|
| Mean length | 4.305700436 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Decimal_Number | 10 | 76.9% | |
| Lowercase_Letter | 2 | 15.4% | |
| Other_Punctuation | 1 | 7.7% |
| Value | Count | Frequency (%) | |
| Common | 11 | 84.6% | |
| Latin | 2 | 15.4% |
| Value | Count | Frequency (%) | |
| ASCII | 13 | 100.0% |
| Distinct count | 13970 |
|---|---|
| Unique (%) | 24.8% |
| Missing | 8884 |
| Missing (%) | 13.6% |
| Memory size | 509.4 KiB |
| 852 | 31 |
|---|---|
| 878 | 30 |
| 1201 | 29 |
| 789 | 29 |
| 729 | 29 |
| Other values (13965) |
| Value | Count | Frequency (%) | |
| 852 | 31 | < 0.1% | |
| 878 | 30 | < 0.1% | |
| 1201 | 29 | < 0.1% | |
| 789 | 29 | < 0.1% | |
| 729 | 29 | < 0.1% | |
| 433 | 29 | < 0.1% | |
| 452 | 29 | < 0.1% | |
| 432 | 28 | < 0.1% | |
| 327 | 28 | < 0.1% | |
| 566 | 28 | < 0.1% | |
| Other values (13960) | 56014 | 85.9% | |
| (Missing) | 8884 | 13.6% |
Length
| Max length | 13 |
|---|---|
| Mean length | 3.839924526 |
| Min length | 1 |
| Value | Count | Frequency (%) | |
| Decimal_Number | 10 | 71.4% | |
| Lowercase_Letter | 2 | 14.3% | |
| Dash_Punctuation | 1 | 7.1% | |
| Other_Punctuation | 1 | 7.1% |
| Value | Count | Frequency (%) | |
| Common | 12 | 85.7% | |
| Latin | 2 | 14.3% |
| Value | Count | Frequency (%) | |
| ASCII | 14 | 100.0% |
| Distinct count | 13663 |
|---|---|
| Unique (%) | 24.7% |
| Missing | 9955 |
| Missing (%) | 15.3% |
| Memory size | 509.4 KiB |
| 1 | 36 |
|---|---|
| 696 | 35 |
| 465 | 32 |
| 379 | 32 |
| 402 | 31 |
| Other values (13658) |
| Value | Count | Frequency (%) | |
| 1 | 36 | 0.1% | |
| 696 | 35 | 0.1% | |
| 465 | 32 | < 0.1% | |
| 379 | 32 | < 0.1% | |
| 402 | 31 | < 0.1% | |
| 507 | 30 | < 0.1% | |
| 3 | 30 | < 0.1% | |
| 606 | 30 | < 0.1% | |
| 27 | 30 | < 0.1% | |
| 207 | 30 | < 0.1% | |
| Other values (13653) | 54917 | 84.2% | |
| (Missing) | 9955 | 15.3% |
Length
| Max length | 13 |
|---|---|
| Mean length | 3.734935878 |
| Min length | 1 |
| Value | Count | Frequency (%) | |
| Decimal_Number | 10 | 71.4% | |
| Lowercase_Letter | 2 | 14.3% | |
| Dash_Punctuation | 1 | 7.1% | |
| Other_Punctuation | 1 | 7.1% |
| Value | Count | Frequency (%) | |
| Common | 12 | 85.7% | |
| Latin | 2 | 14.3% |
| Value | Count | Frequency (%) | |
| ASCII | 14 | 100.0% |
| Distinct count | 7339 |
|---|---|
| Unique (%) | 13.3% |
| Missing | 9955 |
| Missing (%) | 15.3% |
| Memory size | 509.4 KiB |
| 1 | 100 |
|---|---|
| 27 | 80 |
| 127 | 78 |
| 69 | 75 |
| 12 | 74 |
| Other values (7334) |
| Value | Count | Frequency (%) | |
| 1 | 100 | 0.2% | |
| 27 | 80 | 0.1% | |
| 127 | 78 | 0.1% | |
| 69 | 75 | 0.1% | |
| 12 | 74 | 0.1% | |
| 158 | 73 | 0.1% | |
| 11 | 72 | 0.1% | |
| 38 | 71 | 0.1% | |
| 90 | 71 | 0.1% | |
| 57 | 71 | 0.1% | |
| Other values (7329) | 54468 | 83.6% | |
| (Missing) | 9955 | 15.3% |
Length
| Max length | 11 |
|---|---|
| Mean length | 3.261919372 |
| Min length | 1 |
| Value | Count | Frequency (%) | |
| Decimal_Number | 10 | 71.4% | |
| Lowercase_Letter | 2 | 14.3% | |
| Dash_Punctuation | 1 | 7.1% | |
| Other_Punctuation | 1 | 7.1% |
| Value | Count | Frequency (%) | |
| Common | 12 | 85.7% | |
| Latin | 2 | 14.3% |
| Value | Count | Frequency (%) | |
| ASCII | 14 | 100.0% |
| Distinct count | 1262 |
|---|---|
| Unique (%) | 2.3% |
| Missing | 10004 |
| Missing (%) | 15.3% |
| Memory size | 509.4 KiB |
| A | 2005 |
|---|---|
| L | 2003 |
| P | 1858 |
| S | 1710 |
| T | 1677 |
| Other values (1257) |
| Value | Count | Frequency (%) | |
| A | 2005 | 3.1% | |
| L | 2003 | 3.1% | |
| P | 1858 | 2.9% | |
| S | 1710 | 2.6% | |
| T | 1677 | 2.6% | |
| R/Q | 1421 | 2.2% | |
| R/H | 1350 | 2.1% | |
| G | 1121 | 1.7% | |
| R/C | 1118 | 1.7% | |
| A/T | 1042 | 1.6% | |
| Other values (1252) | 39879 | 61.2% | |
| (Missing) | 10004 | 15.3% |
Length
| Max length | 45 |
|---|---|
| Mean length | 2.494140026 |
| Min length | 1 |
| Value | Count | Frequency (%) | |
| Uppercase_Letter | 21 | 80.8% | |
| Lowercase_Letter | 2 | 7.7% | |
| Other_Punctuation | 2 | 7.7% | |
| Dash_Punctuation | 1 | 3.8% |
| Value | Count | Frequency (%) | |
| Latin | 23 | 88.5% | |
| Common | 3 | 11.5% |
| Value | Count | Frequency (%) | |
| ASCII | 26 | 100.0% |
| Distinct count | 2220 |
|---|---|
| Unique (%) | 4.0% |
| Missing | 10004 |
| Missing (%) | 15.3% |
| Memory size | 509.4 KiB |
| cGg/cAg | 915 |
|---|---|
| Cgg/Tgg | 852 |
| cGc/cAc | 769 |
| Cga/Tga | 734 |
| Cgc/Tgc | 730 |
| Other values (2215) |
| Value | Count | Frequency (%) | |
| cGg/cAg | 915 | 1.4% | |
| Cgg/Tgg | 852 | 1.3% | |
| cGc/cAc | 769 | 1.2% | |
| Cga/Tga | 734 | 1.1% | |
| Cgc/Tgc | 730 | 1.1% | |
| gaC/gaT | 701 | 1.1% | |
| gcG/gcA | 681 | 1.0% | |
| Gtg/Atg | 680 | 1.0% | |
| ccG/ccA | 643 | 1.0% | |
| gcC/gcT | 614 | 0.9% | |
| Other values (2210) | 47865 | 73.4% | |
| (Missing) | 10004 | 15.3% |
Length
| Max length | 133 |
|---|---|
| Mean length | 6.490013499 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Lowercase_Letter | 5 | 45.5% | |
| Uppercase_Letter | 4 | 36.4% | |
| Dash_Punctuation | 1 | 9.1% | |
| Other_Punctuation | 1 | 9.1% |
| Value | Count | Frequency (%) | |
| Latin | 9 | 81.8% | |
| Common | 2 | 18.2% |
| Value | Count | Frequency (%) | |
| ASCII | 11 | 100.0% |
STRAND
Categorical
| Distinct count | 2 |
|---|---|
| Unique (%) | < 0.1% |
| Missing | 14 |
| Missing (%) | < 0.1% |
| Memory size | 509.4 KiB |
| -1 | |
|---|---|
| 1 |
| Value | Count | Frequency (%) | |
| -1 | 32804 | 50.3% | |
| 1 | 32370 | 49.7% | |
| (Missing) | 14 | < 0.1% |
Length
| Max length | 4 |
|---|---|
| Mean length | 3.503221452 |
| Min length | 3 |
| Value | Count | Frequency (%) | |
| Decimal_Number | 2 | 33.3% | |
| Lowercase_Letter | 2 | 33.3% | |
| Dash_Punctuation | 1 | 16.7% | |
| Other_Punctuation | 1 | 16.7% |
| Value | Count | Frequency (%) | |
| Common | 4 | 66.7% | |
| Latin | 2 | 33.3% |
| Value | Count | Frequency (%) | |
| ASCII | 6 | 100.0% |
| Distinct count | 1195 |
|---|---|
| Unique (%) | 2.0% |
| Missing | 4213 |
| Missing (%) | 6.5% |
| Infinite | 0 |
| Infinite (%) | 0.0% |
| Mean | 0.3450584315 |
|---|---|
| Minimum | 6.89e-05 |
| Maximum | 1 |
| Zeros | 0 |
| Zeros (%) | 0.0% |
| Memory size | 509.4 KiB |
Quantile statistics
| Minimum | 6.89e-05 |
|---|---|
| 5-th percentile | 0.00145 |
| Q1 | 0.0243 |
| median | 0.157 |
| Q3 | 0.71 |
| 95-th percentile | 0.971 |
| Maximum | 1 |
| Range | 0.9999311 |
| Interquartile range (IQR) | 0.6857 |
Descriptive statistics
| Standard deviation | 0.3612384434 |
|---|---|
| Coefficient of variation (CV) | 1.046890644 |
| Kurtosis | -1.201434912 |
| Mean | 0.3450584315 |
| Median Absolute Deviation (MAD) | 0.3223397243 |
| Skewness | 0.6522583053 |
| Sum | 21039.93786 |
| Variance | 0.130493213 |
Histogram with fixed size bins (bins=10)
| Value | Count | Frequency (%) | |
| 0.971 | 2836 | 4.4% | |
| 0.0896 | 1953 | 3.0% | |
| 0.782 | 1909 | 2.9% | |
| 0.00386 | 1228 | 1.9% | |
| 0.0212 | 1094 | 1.7% | |
| 0.00207 | 1075 | 1.6% | |
| 0.116 | 1068 | 1.6% | |
| 0.0737 | 905 | 1.4% | |
| 0.965 | 798 | 1.2% | |
| 0.000276 | 640 | 1.0% | |
| Other values (1185) | 47469 | 72.8% | |
| (Missing) | 4213 | 6.5% |
| Value | Count | Frequency (%) | |
| 6.89e-05 | 60 | 0.1% | |
| 0.000138 | 162 | 0.2% | |
| 0.000207 | 118 | 0.2% | |
| 0.000276 | 640 | 1.0% | |
| 0.000344 | 197 | 0.3% |
| Value | Count | Frequency (%) | |
| 1 | 3 | < 0.1% | |
| 0.999 | 3 | < 0.1% | |
| 0.998 | 133 | 0.2% | |
| 0.997 | 45 | 0.1% | |
| 0.996 | 1 | < 0.1% |
| Distinct count | 9324 |
|---|---|
| Unique (%) | 14.5% |
| Missing | 1092 |
| Missing (%) | 1.7% |
| Infinite | 0 |
| Infinite (%) | 0.0% |
| Mean | 15.68561648 |
|---|---|
| Minimum | 0.001 |
| Maximum | 99 |
| Zeros | 0 |
| Zeros (%) | 0.0% |
| Memory size | 509.4 KiB |
Quantile statistics
| Minimum | 0.001 |
|---|---|
| 5-th percentile | 0.07 |
| Q1 | 7.141 |
| median | 14.09 |
| Q3 | 24.1 |
| 95-th percentile | 34 |
| Maximum | 99 |
| Range | 98.999 |
| Interquartile range (IQR) | 16.959 |
Descriptive statistics
| Standard deviation | 10.83635024 |
|---|---|
| Coefficient of variation (CV) | 0.690846308 |
| Kurtosis | -0.3988884313 |
| Mean | 15.68561648 |
| Median Absolute Deviation (MAD) | 9.19150042 |
| Skewness | 0.3787342923 |
| Sum | 1005385.274 |
| Variance | 117.4264864 |
Histogram with fixed size bins (bins=10)
| Value | Count | Frequency (%) | |
| 34 | 1431 | 2.2% | |
| 35 | 1263 | 1.9% | |
| 33 | 931 | 1.4% | |
| 32 | 828 | 1.3% | |
| 0.001 | 509 | 0.8% | |
| 0.002 | 469 | 0.7% | |
| 31 | 458 | 0.7% | |
| 23 | 427 | 0.7% | |
| 23.1 | 412 | 0.6% | |
| 23.2 | 405 | 0.6% | |
| Other values (9314) | 56963 | 87.4% | |
| (Missing) | 1092 | 1.7% |
| Value | Count | Frequency (%) | |
| 0.001 | 509 | 0.8% | |
| 0.002 | 469 | 0.7% | |
| 0.003 | 212 | 0.3% | |
| 0.004 | 144 | 0.2% | |
| 0.005 | 108 | 0.2% |
| Value | Count | Frequency (%) | |
| 99 | 1 | < 0.1% | |
| 81 | 1 | < 0.1% | |
| 79 | 1 | < 0.1% | |
| 74 | 1 | < 0.1% | |
| 73 | 1 | < 0.1% |
| Distinct count | 63803 |
|---|---|
| Unique (%) | 99.5% |
| Missing | 1092 |
| Missing (%) | 1.7% |
| Infinite | 0 |
| Infinite (%) | 0.0% |
| Mean | 2.554131453 |
|---|---|
| Minimum | -5.477391 |
| Maximum | 46.556261 |
| Zeros | 0 |
| Zeros (%) | 0.0% |
| Memory size | 509.4 KiB |
Quantile statistics
| Minimum | -5.477391 |
|---|---|
| 5-th percentile | -0.70556925 |
| Q1 | 0.46295075 |
| median | 1.6429485 |
| Q3 | 4.38139175 |
| 95-th percentile | 7.45498775 |
| Maximum | 46.556261 |
| Range | 52.033652 |
| Interquartile range (IQR) | 3.918441 |
Descriptive statistics
| Standard deviation | 2.961553499 |
|---|---|
| Coefficient of variation (CV) | 1.159514909 |
| Kurtosis | 5.94858469 |
| Mean | 2.554131453 |
| Median Absolute Deviation (MAD) | 2.309544805 |
| Skewness | 1.609072348 |
| Sum | 163709.6096 |
| Variance | 8.770799128 |
Histogram with fixed size bins (bins=10)
| Value | Count | Frequency (%) | |
| 1.463563 | 3 | < 0.1% | |
| 5.456311 | 2 | < 0.1% | |
| 3.363536 | 2 | < 0.1% | |
| 1.344155 | 2 | < 0.1% | |
| -0.019198 | 2 | < 0.1% | |
| 2.534534 | 2 | < 0.1% | |
| 4.437403 | 2 | < 0.1% | |
| 0.753203 | 2 | < 0.1% | |
| 1.549289 | 2 | < 0.1% | |
| 6.273175 | 2 | < 0.1% | |
| Other values (63793) | 64075 | 98.3% | |
| (Missing) | 1092 | 1.7% |
| Value | Count | Frequency (%) | |
| -5.477391 | 1 | < 0.1% | |
| -4.682013 | 1 | < 0.1% | |
| -4.472198 | 1 | < 0.1% | |
| -4.450451 | 1 | < 0.1% | |
| -4.314148 | 1 | < 0.1% |
| Value | Count | Frequency (%) | |
| 46.556261 | 1 | < 0.1% | |
| 34.23672 | 1 | < 0.1% | |
| 33.935525 | 1 | < 0.1% | |
| 32.934203 | 1 | < 0.1% | |
| 32.693999 | 1 | < 0.1% |
Pearson's r
The Pearson's correlation coefficient (r) is a measure of linear correlation between two variables. It's value lies between -1 and +1, -1 indicating total negative linear correlation, 0 indicating no linear correlation and 1 indicating total positive linear correlation. Furthermore, r is invariant under separate changes in location and scale of the two variables, implying that for a linear function the angle to the x-axis does not affect r.To calculate r for two variables X and Y, one divides the covariance of X and Y by the product of their standard deviations.
Spearman's ρ
The Spearman's rank correlation coefficient (ρ) is a measure of monotonic correlation between two variables, and is therefore better in catching nonlinear monotonic correlations than Pearson's r. It's value lies between -1 and +1, -1 indicating total negative monotonic correlation, 0 indicating no monotonic correlation and 1 indicating total positive monotonic correlation.To calculate ρ for two variables X and Y, one divides the covariance of the rank variables of X and Y by the product of their standard deviations.
Kendall's τ
Similarly to Spearman's rank correlation coefficient, the Kendall rank correlation coefficient (τ) measures ordinal association between two variables. It's value lies between -1 and +1, -1 indicating total negative correlation, 0 indicating no correlation and 1 indicating total positive correlation.To calculate τ for two variables X and Y, one determines the number of concordant and discordant pairs of observations. τ is given by the number of concordant pairs minus the discordant pairs divided by the total number of pairs.
First rows
| CHROM | POS | REF | ALT | AF_ESP | AF_EXAC | AF_TGP | CLNHGVS | CLNVC | MC | CLASS | Allele | IMPACT | EXON | cDNA_position | CDS_position | Protein_position | Amino_acids | Codons | STRAND | LoFtool | CADD_PHRED | CADD_RAW | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 0 | 1 | 1168180 | G | C | 0.0771 | 0.10020 | 0.1066 | NC_000001.10:g.1168180G>C | single_nucleotide_variant | SO:0001583|missense_variant | 0 | C | MODERATE | 1/1 | 552 | 522 | 174 | E/D | gaG/gaC | 1.0 | NaN | 1.053 | -0.208682 |
| 1 | 1 | 1470752 | G | A | 0.0000 | 0.00000 | 0.0000 | NC_000001.10:g.1470752G>A | single_nucleotide_variant | SO:0001583|missense_variant | 0 | A | MODERATE | 4/4 | 523 | 509 | 170 | P/L | cCg/cTg | -1.0 | NaN | 31.000 | 6.517838 |
| 2 | 1 | 1737942 | A | G | 0.0000 | 0.00001 | 0.0000 | NC_000001.10:g.1737942A>G | single_nucleotide_variant | SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant | 1 | G | MODERATE | 6/12 | 632 | 239 | 80 | I/T | aTc/aCc | -1.0 | NaN | 28.100 | 6.061752 |
| 3 | 1 | 2160305 | G | A | 0.0000 | 0.00000 | 0.0000 | NC_000001.10:g.2160305G>A | single_nucleotide_variant | SO:0001583|missense_variant | 0 | A | MODERATE | 1/7 | 132 | 100 | 34 | G/S | Ggc/Agc | 1.0 | NaN | 22.500 | 3.114491 |
| 4 | 1 | 2160305 | G | T | 0.0000 | 0.00000 | 0.0000 | NC_000001.10:g.2160305G>T | single_nucleotide_variant | SO:0001583|missense_variant | 0 | T | MODERATE | 1/7 | 132 | 100 | 34 | G/C | Ggc/Tgc | 1.0 | NaN | 24.700 | 4.766224 |
| 5 | 1 | 2160554 | G | C | 0.0000 | 0.00000 | 0.0000 | NC_000001.10:g.2160554G>C | single_nucleotide_variant | SO:0001583|missense_variant | 0 | C | MODERATE | 1/7 | 381 | 349 | 117 | G/R | Ggc/Cgc | 1.0 | NaN | 23.700 | 4.079099 |
| 6 | 1 | 3328358 | T | C | 0.0000 | 0.00000 | 0.0000 | NC_000001.10:g.3328358T>C | single_nucleotide_variant | SO:0001583|missense_variant | 0 | C | MODERATE | 9/17 | 1858 | 1600 | 534 | S/P | Tcg/Ccg | 1.0 | 0.101 | 0.172 | -0.543433 |
| 7 | 1 | 3328659 | C | T | 0.1523 | 0.13103 | 0.1060 | NC_000001.10:g.3328659C>T | single_nucleotide_variant | SO:0001583|missense_variant | 0 | T | MODERATE | 9/17 | 2159 | 1901 | 634 | P/L | cCt/cTt | 1.0 | 0.101 | 23.000 | 3.424422 |
| 8 | 1 | 3347452 | G | A | 0.0000 | 0.00357 | 0.0030 | NC_000001.10:g.3347452G>A | single_nucleotide_variant | SO:0001583|missense_variant | 1 | A | MODERATE | 15/17 | 3562 | 3304 | 1102 | V/M | Gtg/Atg | 1.0 | 0.101 | 11.360 | 1.126629 |
| 9 | 1 | 5925304 | G | A | 0.0045 | 0.00231 | 0.0058 | NC_000001.10:g.5925304G>A | single_nucleotide_variant | SO:0001583|missense_variant | 0 | A | MODERATE | 27/30 | 3942 | 3674 | 1225 | T/M | aCg/aTg | -1.0 | 0.021 | 22.100 | 2.969650 |
Last rows
| CHROM | POS | REF | ALT | AF_ESP | AF_EXAC | AF_TGP | CLNHGVS | CLNVC | MC | CLASS | Allele | IMPACT | EXON | cDNA_position | CDS_position | Protein_position | Amino_acids | Codons | STRAND | LoFtool | CADD_PHRED | CADD_RAW | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 65178 | X | 154005088 | C | CAAG | 0.0000 | 0.00000 | 0.0000 | NC_000023.10:g.154005109_154005111dupGAA | Duplication | NaN | 0 | AAG | MODERATE | 15/15 | 1701-1702 | 1491-1492 | 497-498 | -/K | -/AAG | 1.0 | NaN | 14.500 | 1.716666 |
| 65179 | X | 154005088 | CAAG | C | 0.0000 | 0.00000 | 0.0000 | NC_000023.10:g.154005109_154005111delGAA | Deletion | SO:0001624|3_prime_UTR_variant | 1 | - | MODERATE | 15/15 | 1702-1704 | 1492-1494 | 498 | K/- | AAG/- | 1.0 | NaN | 16.300 | 2.014044 |
| 65180 | X | 154005148 | G | A | 0.0708 | 0.17233 | 0.1383 | NC_000023.10:g.154005148G>A | single_nucleotide_variant | SO:0001624|3_prime_UTR_variant | 0 | A | MODIFIER | 15/15 | 1761 | NaN | NaN | NaN | NaN | 1.0 | NaN | 6.255 | 0.359695 |
| 65181 | X | 154065843 | G | A | 0.0159 | 0.00689 | 0.0127 | NC_000023.10:g.154065843G>A | single_nucleotide_variant | SO:0001624|3_prime_UTR_variant | 0 | A | MODIFIER | 26/26 | 7256 | NaN | NaN | NaN | NaN | -1.0 | 0.00158 | 3.007 | 0.042639 |
| 65182 | X | 154157565 | C | T | 0.0153 | 0.00473 | 0.0140 | NC_000023.10:g.154157565C>T | single_nucleotide_variant | SO:0001819|synonymous_variant | 0 | T | LOW | 14/26 | 4671 | 4500 | 1500 | P | ccG/ccA | -1.0 | 0.00158 | 11.440 | 1.142527 |
| 65183 | X | 154158201 | T | G | 0.0801 | 0.13923 | 0.1605 | NC_000023.10:g.154158201T>G | single_nucleotide_variant | SO:0001819|synonymous_variant | 0 | G | LOW | 14/26 | 4035 | 3864 | 1288 | S | tcA/tcC | -1.0 | 0.00158 | 0.105 | -0.630908 |
| 65184 | X | 154159118 | C | T | 0.0020 | 0.00060 | 0.0013 | NC_000023.10:g.154159118C>T | single_nucleotide_variant | SO:0001583|missense_variant | 1 | T | MODERATE | 14/26 | 3118 | 2947 | 983 | V/I | Gta/Ata | -1.0 | 0.00158 | 0.002 | -1.731470 |
| 65185 | X | 154194886 | C | T | 0.0125 | 0.00370 | 0.0111 | NC_000023.10:g.154194886C>T | single_nucleotide_variant | SO:0001819|synonymous_variant | 0 | T | LOW | 8/26 | 1257 | 1086 | 362 | A | gcG/gcA | -1.0 | 0.00158 | 12.850 | 1.412434 |
| 65186 | X | 154490187 | T | C | 0.0003 | 0.00034 | 0.0000 | NC_000023.10:g.154490187T>C | single_nucleotide_variant | SO:0001819|synonymous_variant | 0 | C | LOW | 2/2 | 822 | 543 | 181 | T | acA/acG | -1.0 | NaN | 0.130 | -0.592415 |
| 65187 | X | 154508542 | G | C | 0.0019 | 0.00267 | 0.0008 | NC_000023.10:g.154508542G>C | single_nucleotide_variant | SO:0001583|missense_variant | 0 | C | MODERATE | 6/7 | 791 | 532 | 178 | P/A | Cca/Gca | -1.0 | 0.14000 | 0.046 | -0.786513 |